Friberg Camilla, Björck Karin, Nilsson Staffan, Inerot Annica, Wahlström Jan, Samuelsson Lena
Department of Clinical Genetics, Sahlgrenska University Hospital/Ostra, Smörslottsgatan 1, Göteborg University, Göteborg SE-41685, Sweden.
J Invest Dermatol. 2006 May;126(5):998-1002. doi: 10.1038/sj.jid.5700194.
We have previously reported a region on chromosome 5q as a possible susceptibility region for psoriasis. This cytokine cluster-rich region has also been suggested as a susceptibility locus in other autoimmune or inflammatory diseases including Crohn's disease (CD) and rheumatoid arthritis (RA). Three specific single-nucleotide polymorphisms (SNPs) have been reported to associate with RA and CD and to change the functional activity of two organic cation transporters, solute carrier family 22 member 4/5 (SLC22A4) and (SLC22A5). In this study, we have analyzed these SNPs for an association with psoriasis. We have also performed a denser linkage analysis of this region with an additional 31 microsatellite markers. We were not able to detect any association with any of the three SNPs analyzed. However, our linkage result supports the involvement of this region in the etiology of psoriasis. We obtained a peak non-parametric linkage value of 3.1 for marker D5S436 in a subgroup of patients with joint complaints. This result supports the findings in another study of psoriasis patients originating from Iceland in which the authors obtained a peak logarithm of the odds score of 2.6 for marker D5S2090, only 2 Mb from D5S436. This suggests a psoriasis susceptibility locus on chromosome 5q32 that is involved in the arthritic phenotype of the disease.
我们之前报道过5号染色体长臂上的一个区域可能是银屑病的易感区域。这个富含细胞因子簇的区域也被认为是包括克罗恩病（CD）和类风湿性关节炎（RA）在内的其他自身免疫性或炎性疾病的易感位点。据报道，有三种特定的单核苷酸多态性（SNP）与RA和CD相关，并改变两种有机阳离子转运体——溶质载体家族22成员4/5（SLC22A4）和（SLC22A5）的功能活性。在本研究中，我们分析了这些SNP与银屑病的相关性。我们还用另外31个微卫星标记对该区域进行了更密集的连锁分析。我们未能检测到所分析的三种SNP中的任何一种与银屑病有关联。然而，我们的连锁分析结果支持该区域参与银屑病的病因学。在有关节症状的患者亚组中，我们获得标记D5S436的非参数连锁峰值为3.1。这一结果支持了另一项对来自冰岛的银屑病患者的研究结果，在该研究中，作者获得标记D5S2090的优势对数得分峰值为2.6，该标记距D5S436仅2兆碱基。这表明5号染色体长臂32区存在一个银屑病易感位点，该位点与疾病的关节炎表型有关。
